Canonical Allele Identifier: CA3654408
Gene: NRSN1 HGNC NCBI

Linked Data

dbSNP Id: rs367683449
gnomAD v2: 6-24146215-G-A
gnomAD v3: 6-24145987-G-A
gnomAD v4: 6-24145987-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24145987G>A , CM000668.2:g.24145987G>A GRCh38
NC_000006.11:g.24146215G>A , CM000668.1:g.24146215G>A GRCh37
NC_000006.10:g.24254194G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000378491.9:c.*41G>A MANE Select ENSP00000367752.4:n.*41G>A
ENST00000378478.5:c.*41G>A ENSP00000367739.2:n.*41G>A
ENST00000378491.8:c.*41G>A ENSP00000367752.4:n.*41G>A
ENST00000468195.2:n.257-8784G>A
NM_080723.4:c.*41G>A NP_542454.3:n.*41G>A
NM_080723.5:c.*41G>A MANE Select NP_542454.3:n.*41G>A